Abstract tRNAs are key adaptor molecules that decipher the genetic code during translation
of mRNAs in protein synthesis. In contrast to the traditional view of tRNAs as ubiquitously …

Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

Expression of human mitochondrial DNA is indispensable for proper function of the oxidative
phosphorylation machinery. The mitochondrial genome encodes 22 tRNAs, 2 rRNAs and 11 …

The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow
disorders defined by pathological iron accumulation in the mitochondria of erythroid …

Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although,
defective oxidative phosphorylation (OXPHOS) is the common final pathway, it is unknown …

Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-
onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7 …

Mitochondria are bilayer sub-cellular organelles that are an integral part of normal cellular
physiology. They are responsible for producing the majority of a cell's ATP, thus supplying …

Abstract Objective Monogenic Autoinflammatory diseases (AIDs) are a broad spectrum of
rare hereditary diseases whose ocular involvement has not been well characterized yet …

Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids
by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt …